title: Congenital myasthenia gravis.
abstract: Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test, acetylcholine receptor antibody test, trial of steroids and finally neostigmine test which confirmed the diagnosis. This case illustrates the challenges in diagnosing congenital myasthenia gravis and highlights the potential benefits of neostigmine test in its diagnosis.
authors.affiliation: Department of Ophthalmology, Liaquat University of Medical and Health Sciences, Jamshoro, Hyderabad. noorniz@hotmail.com
authors.forename: Noor Bakht
authors.initials: NB
authors.lastname: Nizamani
authors.forename: Khalid Iqbal
authors.initials: KI
authors.lastname: Talpur
authors.forename: Mariya Nazish
authors.initials: MN
authors.lastname: Memon
mesh_terms: D002675:Child, Preschool; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis* / Q000188:drug therapy*; D009388:Neostigmine / Q000097:blood / Q000276:immunology; D011729:Pyridostigmine Bromide / Q000627:therapeutic use*; D011950:Receptors, Cholinergic / Q000097:blood / Q000276:immunology; D016896:Treatment Outcome
chemical_list: D002800:Cholinesterase Inhibitors; D011950:Receptors, Cholinergic; D009388:Neostigmine; D011729:Pyridostigmine Bromide